KCNS3 potassium voltage-gated channel modifier subfamily S member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNS3provided by HGNC
Official Full Name: potassium voltage-gated channel modifier subfamily S member 3provided by HGNC
Primary source: HGNC:HGNC:6302
See related: Ensembl:ENSG00000170745 MIM:603888; AllianceGenome:HGNC:6302
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KV9.3
Summary: Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
Expression: Broad expression in lung (RPKM 12.4), placenta (RPKM 5.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p24.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (17877847..17932958)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (17909623..17964710)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (18059114..18114225)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
Title: Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.
By in situ hybridization, KCNS3 mRNA levels were 23% lower in schizophrenia subjects than in controls. At the cellular level, both KCNS3 mRNA-expressing neuron density and KCNS3 mRNA level per neuron were significantly lower.
Title: Lower gene expression for KCNS3 potassium channel subunit in parvalbumin-containing neurons in the prefrontal cortex in schizophrenia.
study concluded that potassium voltage-gated channel K(V)9.3 is localised to human placental vascular tissues and syncytiotrophoblast
Title: Expression of an electrically silent voltage-gated potassium channel in the human placenta.
stromatoxin-1 -sensitive KV2-containing channels are expressed in detrusor smooth muscle (DSM); they control DSM excitability, intracellular Ca2+ levels, and myogenic and nerve-evoked contractions
Title: Expression and function of K(V)2-containing channels in human urinary bladder smooth muscle.
There is evidence of heteromultimeric Kv2.1/Kv9.3 channel expression in control of middle cerebral arterial diameter.
Title: Stromatoxin-sensitive, heteromultimeric Kv2.1/Kv9.3 channels contribute to myogenic control of cerebral arterial diameter.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: A high-density association screen of 155 ion transport genes for involvement with common migraine.
Observational study of gene-disease association. (HuGE Navigator)
Title: Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness.
formation of heteromeric Kv2.1/Kv9.3 channels of fixed stoichiometry consisting of three Kv2.1 subunits and one Kv9.3 subunit
Title: Fluorescence measurements reveal stoichiometry of K+ channels formed by modulatory and delayed rectifier alpha-subunits.
Our findings suggest that SNPs located at the 3' downstream region of KCNS3 have a significant role in the etiology of AHR.
Title: Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KCNS3_457 (e-PCR)
- UniSTS:277436

RH103440 (e-PCR)
- UniSTS:97765

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables delayed rectifier potassium channel activity	TAS Traceable Author Statement more info	PubMed
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily S member 3

Names: Shab-related delayed-rectifier K+ channel alpha subunit 3; delayed-rectifier K(+) channel alpha subunit 3; potassium voltage-gated channel delayed-rectifier protein S3; potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3; voltage-gated potassium channel protein Kv9.3; voltage-gated potassium channel subunit Kv9.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012873.2 RefSeqGene

Range

5822..60113

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001282428.2 → NP_001269357.1 potassium voltage-gated channel subfamily S member 3

See identical proteins and their annotated locations for NP_001269357.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' terminal exon, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC093731

Consensus CDS

CCDS1692.1

UniProtKB/Swiss-Prot

D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31

Related

ENSP00000385968.1, ENST00000403915.5

Conserved Domains (4) summary

smart00225
Location:44 → 122

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00520
Location:219 → 417

Ion_trans; Ion transport protein

pfam02214
Location:17 → 116

BTB_2; BTB/POZ domain

pfam07885
Location:329 → 411

Ion_trans_2; Ion channel
NM_002252.5 → NP_002243.3 potassium voltage-gated channel subfamily S member 3

See identical proteins and their annotated locations for NP_002243.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) and variant 2 encode the same protein.

Source sequence(s)

AC093731

Consensus CDS

CCDS1692.1

UniProtKB/Swiss-Prot

D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31

Related

ENSP00000305824.4, ENST00000304101.9

Conserved Domains (4) summary

smart00225
Location:44 → 122

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00520
Location:219 → 417

Ion_trans; Ion transport protein

pfam02214
Location:17 → 116

BTB_2; BTB/POZ domain

pfam07885
Location:329 → 411

Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

17877847..17932958

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532825.2 → XP_011531127.1 potassium voltage-gated channel subfamily S member 3 isoform X1

See identical proteins and their annotated locations for XP_011531127.1

UniProtKB/Swiss-Prot

D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31

Conserved Domains (4) summary

smart00225
Location:44 → 122

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00520
Location:219 → 417

Ion_trans; Ion transport protein

pfam02214
Location:17 → 116

BTB_2; BTB/POZ domain

pfam07885
Location:329 → 411

Ion_trans_2; Ion channel
XM_047444255.1 → XP_047300211.1 potassium voltage-gated channel subfamily S member 3 isoform X1

UniProtKB/Swiss-Prot

D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

17909623..17964710

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341943.1 → XP_054197918.1 potassium voltage-gated channel subfamily S member 3 isoform X1

UniProtKB/Swiss-Prot

D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31
XM_054341942.1 → XP_054197917.1 potassium voltage-gated channel subfamily S member 3 isoform X1

UniProtKB/Swiss-Prot

D6W520, O43651, Q4ZFY1, Q96B56, Q9BQ31